Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555532483
rs1555532483
1.000 17 5433040 missense variant A/G snv
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.800 1.000 1 2017 2017
dbSNP: rs1555532484
rs1555532484
1.000 17 5433041 missense variant G/A snv
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.800 1.000 1 2017 2017
dbSNP: rs748497469
rs748497469
1.000 17 5433688 missense variant C/G snv 4.0E-06 2.1E-05
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.800 0
dbSNP: rs767427194
rs767427194
1.000 17 5433380 missense variant G/C snv 2.4E-05 2.8E-05
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.800 0
dbSNP: rs1394499137
rs1394499137
1.000 17 5433125 missense variant C/A;G snv 4.0E-06
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.700 0
dbSNP: rs755568057
rs755568057
1.000 17 5433681 inframe deletion AAT/- delins 8.0E-06 2.1E-05
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.700 0